After spending 4 years as a Research Assistant in the Hughes lab, I am now on a WIMM studentship and am studying for my DPhil in Medical Sciences. The main focus of my research is using genomic assays to find and characterise SNPs that disrupt gene regulation and cause disease.
As an RA, I worked on multiple projects within the lab as well collaborations. My main roles involved the characterisation of the genome, mainly by using techniques that utilise Next Generation Sequencing, such as ATAC-seq and 3C methods. These methods are able to show us what is happening at certain genomic regions, and can pinpoint where the genes and their surrounding regulatory elements are.
My DPhil project builds on the work I did as an RA, and my own project now focuses on using the newest 3C methods developed in the lab to better understand the mechanisms by which SNPs can influence regulatory elements. With higher resolution outputs we can much more precisely map which regions of DNA, and therefore which regulatory elements, are interacting. I also work closely with the computational members of the lab, using the outputs of Machine Learning tools that are able to predict the effects of the SNPs I am studying.
On top of research, I have also trained collaborators and students in various techniques. As well as practical work I enjoy taking a proactive role in public engagement.
Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia.
Mettananda S. et al, (2017), Nat Commun, 8
Tissue-specific CTCF-cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo.
Hanssen LLP. et al, (2017), Nat Cell Biol, 19, 952 - 961
Functional characterisation of cis-regulatory elements governing dynamic Eomes expression in the early mouse embryo.
Simon CS. et al, (2017), Development, 144, 1249 - 1260